C292W (p.Cys292Trp) variant of GATA4 (Transcription factor GATA-4)
C292W (p.Cys292Trp) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
C292W (p.Cys292Trp) variant details
- p.Cys292Trp
- rs2130313407
- ClinGen CA370313091
- ClinVar RCV001970824
- Ensembl rs2130313407
- Likely pathogenic
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- MutPred 0.92
- ClinVar: Likely pathogenic (Atrioventricular septal defect 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available